Cheryl Longman

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 5 papers. Top paper: “Making sense of missense variants in TTN-related congenital myopathies”.

Making sense of missense variants in TTN-related congenital myopathies

Acta Neuropathologica(2021)10.1007/s00401-020-02257-0

N/A

0DataRank · unranked

67 citations

Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A. Fernandez-Garcia, Elizabeth Wraige +40 more

Protein Kinase Cγ Mutations Drive Spinocerebellar Ataxia Type 14 by Impairing Autoinhibition

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.06.24.449810

N/A

0DataRank · unranked

0 citations

Timothy R. Baffi, Alexandr P. Kornev, Maya T. Kunkel, Mario Malfavon, Donghui Chen +9 more

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108341

N/A

0DataRank · unranked

4 citations

Cheryl Longman, Maria Elena Farrugia, S. Kapetanovic García, Didem Ardıçlı, Haluk Topaloğlu +15 more

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features

medRxiv(2024)10.1101/2024.09.23.24313872

N/A

0DataRank · unranked

3 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +33 more

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101399

N/A

0DataRank · unranked

5 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +32 more